1a: The relationship between the manifestations of our genes, such as our risk of common diseases, and the genetic variants within our genes is fundamental to health research. Better knowledge of how genetic variants influence disease risk, health behaviours and ageing is the key to the development of new ways of diagnosing, preventing and treating disease, as well predicting the outcomes. We shall apply an array of modern genomic techniques to investigate both which genes and variants within them influence complex disease risk, and understand more about the general features of these variants, the genetic architecture of common complex disease.

1b: UK Biobank aims to improve the prevention, diagnosis and treatment of a wide range of serious and life-threatening illnesses. The proposed research will help to fulfil these aims by revealing the genetic risk factors for a very wide range of risk factors for such diseases, as well as the disease end points themselves. Finding the genes influencing disease risk is the first step to a better understanding of the basic biology of disease, enabling a rational approach to designing novel treatments, or preventative measures.

1c: All analyses will be performed on dedicated, secure compute servers located at the University of Edinburgh. A number of different “pipelines” will be set up to perform particular analyses – each of which compares genetic data to an aspect of health or disease such as a risk factor like cholesterol levels. These pipelines are computer programmes which carry out all the steps of the statistical analysis in an identical manner, and can be used to run through the many different measurements taken in UK Biobank. Significant findings will be written up for publication in peer-reviewed journals.

1d: Full cohort

Project extension:

The relationship between the manifestations of our genes, such as our risk of common diseases, and the genetic variants within our genes is fundamental to health research. Better knowledge of how genetic variants influence disease risk, health behaviours and ageing is the key to the development of new ways of diagnosing, preventing and treating disease, as well a predicting the outcomes. We shall apply an array of modern genomic techniques to investigate both which genes and variants within them influence complex disease risk, and understand more about the general features of these variants, the genetic architecture of common complex disease.

We shall also include measures of symmetry, such as those derived from bone lengths in the above analyses.